Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil

Dias, Natalia Moraes; Andrade, Danilo Giorgi Abranches de; Neto, Antônio Raphael Teixeira; Trinque, Camila Moreira; Oliveira-Filho, José Paes de; Winand, Nena J.; Araújo, João Pessoa; Borges, Alexandre Luiz Souto

doi:10.1016/j.tvjl.2019.05.002

Cited by 15 publications

(16 citation statements)

References 8 publications

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“…Further pedigree analyses showed that WFFS might segregate among Hanoverian, Selle Français, Dutch Warmblood, Oldenburg, and Westphalian breeds [27]. The same carrier frequency of 11% was initially determined for 374 warmblood samples from Brazil in Dias et al, 2019 [35] and further confirmed in the present study for 1610 warmbloods from Europe and the United States. We detected the WFFS allele in 17 out of 19 tested warmblood breeds, with the highest estimated carrier frequency of 17.3% in the Hanoverian (283 horses) and the Danish Warmblood (127 horses).…”

Section: Discussionsupporting

confidence: 81%

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Reiter

Wallner

Brem

et al. 2020

Genes

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Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.

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Section: Discussionsupporting

confidence: 81%

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Reiter

Wallner

Brem

et al. 2020

Genes

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“…In contrast to the severely affected horses harbouring a homozygous mutant genotype, genetic carriers of the recessively inherited disease can pass the mutant allele unnoticed to their progeny. In respect to WFFST1 mutant allele, the distribution was found to be wide in diverse Warmblood horse populations but also Thoroughbred from various countries like Germany, Brazil and USA 23‐25 . We suppose that this wide distribution can be explained due to the admittance of foreign populations in Warmblood breeding and subsequent reciprocal gene flow, as well as due to the origin of WFFST1 variant a long time back in the past.…”

Section: Discussionmentioning

confidence: 85%

“…Initial screenings in pedigree data suggested PLOD1: c.2032G>A segregating among Hanoverian, Selle Francais, KWPN, Oldenburg and Westphalian 22 . Subsequent genetic testing proposed an allele frequency of 5.5% in Warmblood horses in Brazil and 1.2% in Thoroughbred 24,25 . Due to its clinical importance, it was postulated that further investigations on the prevalence of the mutation and on the correlation between genotype and phenotype are required 10 …”

Section: Introductionmentioning

confidence: 99%

Hanoverian F/W‐line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses

Metzger

Kreft²,

Sieme

et al. 2020

Equine Veterinary Journal

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“…Given that there are no reported cases that clinically resemble WFFS in the Thoroughbred, despite the presence of the allele in the breed, albeit at a low frequency, it is plausible, that homozygosity for PLOD1 c.2032G>A may result in early embryonic loss. In support of this, a recent study reported the frequency of the WFFS allele in Warmblood horses in Brazil to be 5.5%, with no live homozygotes and no reported WFFS cases in the country . The frequency of the PLOD1 variant in Warmbloods from other countries has not been reported.…”

Section: Discussionmentioning

confidence: 93%

Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed

Ocampo

Hughes

et al. 2019

Equine Veterinary Journal

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Summary Background Catastrophic fractures are among the most common cause of fatalities in racehorses. Several factors, including genetics, likely contribute to increased risk for fatal injuries. A variant in the procollagen‐lysine, 2‐oxoglutarate 5‐dioxygenase1 gene (PLOD1 c.2032G>A) was shown to cause Warmblood fragile foal syndrome type 1 (WFFS), a fatal recessive defect of the connective tissue. Screening of multiple horse breeds identified the presence of the WFFS allele in the Thoroughbred. PLOD1 is involved in cross‐linking of collagen fibrils and thus could potentially increase the risk of catastrophic breakdown. Objectives Estimate the frequency of the WFFS allele (PLOD1 c.2032G>A) and determine if it is a risk factor for catastrophic breakdown in the Thoroughbred. Study design Case–control genetic study. Methods Genomic DNA from hair and/or tissue samples was genotyped for the WFFS allele. Fisher’s Exact tests were performed to compare allele and carrier frequencies between the case cohort (catastrophic breakdown, n = 22) and several cohorts with no record of injury (n = 138 raced/trained at same track and season and n = 185 older than 7 years and raced during same season), nonracers (n = 92), and a random sample without consideration for racing history (n = 279). Results The frequency of the PLOD1 c.2032G>A variant in the Thoroughbred breed is low (1.2%). Seventeen of 716 Thoroughbreds tested were carriers (2.4%) and no WFFS homozygotes were detected. Only one catastrophic breakdown case carried the WFFS allele. No statistically significant difference in allele or carrier frequency was identified between case and control cohorts (P>0.05 in all comparisons performed). Main limitations This study evaluated cases from one single track. Conclusions This study demonstrated that the PLOD1 c.2032G>A associated with WFFS is present at very low frequency in Thoroughbreds and is not a genetic risk factor for catastrophic breakdown.

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Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil

Cited by 15 publications

References 8 publications

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Hanoverian F/W‐line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses

Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed

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